248300.1.1

United Arab Emirates

Palmoplantar keratoderma; Thickened skin; Flexion contracture of finger; Cone-shaped epiphyses of the distal phalanges of the hand

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020427.3:c.1A>C	2		Mal de Meleda

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
248300.1.2	United Arab Emirates		Unknown			Sibling of 248300.1.1